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M1-Block 1 > Diseases - MBM Exam 1 > Flashcards

Diseases - MBM Exam 1 Flashcards

1
Q

Tay-Sachs

A

Lysosomal Storage disease, lack of lysosomal a-hexosaminidase, GM2 ganglioside builds up

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2
Q

Neumann Pick Type A, B

A

Lack of sphingomyelinase, accumulates in CNS Lack of sphingomyelinase, accumulates in CNS

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3
Q

Gaucher Disease

A

Lysosomal Storage disease, lack of the lysosomal enzyme glucocerebrosidase Symptoms: hepatosplenomegaly, bone disease

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4
Q

Cushing’s Syndrome

A

Fatty acid disease, Cortisol chronically causes accelerated lipolysis

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5
Q

Malate Dehydrogenase Deficiency

A

Fatty acid disease, lack of malate dehydrogenase causes early onset encephalopathy

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6
Q

Congenital General Lipodystrophy Type I

A

CGL1, Fatty acid disease, lack of AGPAT2 results in lack of bodyfat

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7
Q

Fabry’s Disease

A

Fatty acid/Lysosomal storage, lack of a-galactosidase results in accumulation of sphingolipids Symptoms: rashy skin

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8
Q

Zellweger Syndrome

A

Peroxisomal disease, Very long chain fatty acids cannot be imported to peroxisomes, Symptoms: hepatic, cerebral, and renal degeneration

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9
Q

Respiratory Distress Syndrome

A

RDS, Fatty acid disease, Lung surfactant in neonates is not produced (dipalmitoyl phosphatidylcholine)

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10
Q

Neutral Lipid Storage Disorder with Myopathy

A

NLSDM, Fatty acid disease, Mutations in ATGL

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11
Q

Emery-Dreifuss syndrome (muscular dystrophy)

A

Laminopathy, lack of necessary lamina protein

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12
Q

Hutchinson-Gilford syndrome (progeria)

A

Laminopathy, splicing error in nuclear lamina

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13
Q

Lynch Syndrome

A

HNPSS, Error in mismatch repair, defect in mismatch repair enzymes, symptoms: colon cancer

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14
Q

Xeroderma pigmentosum

A

Error in nucleotide excision repair, ability to repair damage caused by UV light is messed up, Symptoms: basal cell carcinomas

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15
Q

Werner Syndrome

A

DNA replication problem, helicase is malfunctioning, premature aging

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16
Q

Shh ectopic expression

A

Gene Regulation disease, mutation in ZRS enhancer –> ectopic expression of Shh, Symptoms: human limb malformations

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17
Q

Follicular B-Cell Lymphoma

A

Gene Regulation disease, 14:18 translocation due to overexpression of BCL-2

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18
Q

Cleft Lip

A

Gene Regulation disease, Disruption of Ap-2a binding site of IRF6 enhancer, symptoms: cleft lip

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19
Q

Fragile X Syndrome

A

FXS Gene Regulation disease, mutation in the FMR1 gene encoding fragile X mental retardation protein, underdevelopment of neural circuits

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20
Q

Brown Adipose Tissue

A

BAT, Mitochondrial disease, inability to expel brown fat after infancy, symtpoms: hibernoma growth

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21
Q

Leigh Syndrome

A

LS, Mitochondrial disease, encephalopathy, cerebellar and brain stem signs

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22
Q

MELAS

A

Mitochondrial disease, Stroke like episodes at < 40 y/o, seizures, and ragged-red fibers

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23
Q

MEMSA

A

Mitochondrial disease: myopathy, seizures, cerebellar ataxia

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24
Q

MERRF

A

Mitochondrial disease: myoclonul, seizures, cerebellar ataxia

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25
Q

Cataracts

A

Cholesterol Synthesis disease, LCAT dysfunction, failure to uptake HDL, leads to eye cloudiness

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26
Q

Gallstone disease or cholelithiasis

A

Cholesterol disease, cholesterol precipitation in galbladder, gallstones

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27
Q

Rickets

A

Steroid synthesis disease, vitamin D deficiency from low steroid hormone synthesis from cholesterol, Symptoms: low [Ca], skeletal deformities, softening of the bones

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28
Q

Familial Defective ApoB

A

Apolipoprotein disorder binding failure of ApoB100 to LDL receptor

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29
Q

Atherosclerosis

A

Lipoprotein metabolism disorder, uptake of OxLDL by macrophage scavenger receptors, foam cell and plaque formation Symptoms: heart failure

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30
Q

Familial Hypercholesterolemia / Type IIa

A

FH, Dyslipidemia, Uptake of LDL is impaired, greater [LDL-cholesterol]

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31
Q

Familial Combined Hyperlipidemia / Type IIb

A

Dyslipidemia, overproduction of ApoB100, higher generation of LDL

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32
Q

Familial dysbetalipoproteinemia / Type III

A

Dyslipidemia, Apo E2 synthesis defect; low affinity for LDL receptor, Symptoms: coronary disease

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33
Q

Lipoprotein Lipase Deficiency

A

Dyslipidemia, Extremely high levels of VLDL and chylomicrons, symptoms: increased pancreatitis risk

34
Q

Maturity Onset Diabetes of the Young

A

MODY, Insulin disorder, glucokinase mutation

35
Q

PFK-1 deficiency

A

Carb Enzyme deficiency, deficiency in PFK-1 leads to inefficient use of glucose in RBCs and muscles. Symptoms: anemia, muscle cramping

36
Q

Pyruvate Kinase deficiency

A

Carb Enzyme deficiency, deficiency in pyruvate kinase leads to insufficient ATP for membrane pumps. Symptoms: hemolytic anemia

37
Q

Lactic Acidosis

A

Carb Enzyme deficiency, too much blood lactate, exceeds buffering capacity of the blood. Symptoms: nausea, vomiting, hyperventilation

38
Q

Von Gierke disease

A

Glycogen storage disease, glucose 6 phosphatase deficiency. Symptoms: hepatomegaly

39
Q

McArdle disease

A

Glycogen storage disease. muscle glycogen phosphorylase deficiency. Symptoms: muscle cramps and pain

40
Q

Pompe disease

A

Glycogen storage disease. lysosomal glucosidase deficiency. Symptoms: no hepatomegaly, severe cardiomyopathy

41
Q

Neonatal hypoglycemia

A

Glycogen storage disease. Malnourished mother leads to hypoglycemic child. Symptoms: newborn born hypoglycemic

42
Q

Hunter disease

A

GAG disease. deficiency of iduronate sulfatase. Symptoms: no hepatosplenomegaly

43
Q

Hurler disease

A

GAG disease. deficiency of a-L-iduronidase. Symptoms: hepatosplenomegaly

44
Q

I-cell disease

A

GAG disease. mannose tag is missing on lysosomal hydrolases

45
Q

Essential Fructoseria

A

Fructose Metabolism disease. deficiency of fructokinase. no symptoms

46
Q

Hereditary Fructose Intolerance

A

HFI. Fructose Metabolism disease. deficiency in aldolase. Symptoms: hepatomegaoly, hypoglycemia

47
Q

Classical Galactosemia

A

Galactose metabolism disease. deficiency of galactose 1-phosphate uridylyl transferase. Symptoms: blood galactose increase

48
Q

Non-classical Galactosemia

A

Galactose metabolism disease. deficiency in galactokinase. Symptoms: blood galactose increase

49
Q

G6PD deficiency

A

PPP disease. deficiency in G6P, similar inheritence pattern as sickle cell (heterozygous = malaria resistence), heinz bodies

50
Q

Spinal Muscular Atrophy

A

mRNA splicing disorder. snRNP malfunctioning. Symptoms: hypotonia and floppy baby syndrome

51
Q

Medium Chain Acyl-CoA Dehydrogenase Deficiency

A

MCADD. Mutations in the ACADM gene lead to a shortage (deficiency) of the MCAD enzyme within cells. Without sufficient amounts of this enzyme, medium-chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to the characteristic signs and symptoms of this disorder such as lethargy and hypoglycemia. Medium-chain fatty acids or partially metabolized fatty acids may also build up in tissues and damage the liver and brain. This abnormal buildup causes the other signs and symptoms of MCAD deficiency.

52
Q

Congenital Adrenal Hyperplasia

A

Congenital adrenal hyperplasia is a genetic disorder. In children with CAH, the gene (21-hydroxylase) that makes the enzyme needed to produce cortisol and aldosterone is not working properly.

53
Q

Neurofibromatosis Type I

A

NF1. Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells). Neurofibromin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the NF1 gene lead to the production of a nonfunctional version of neurofibromin that cannot regulate cell growth and division. As a result, tumors such as neurofibromas can form along nerves throughout the body.

54
Q

Familial Isolated Hypothyroidism

A

Familial isolated hyperparathyroidism can be caused by mutations in the MEN1, CDC73, or CASR gene.

55
Q

Severe Combined Immunodeficiency Syndrome

A

SCIDS. Purine Metabolism disorder. Adenosine Deaminase Deficiency - purine catabolism enzyme. Symptoms: severe immune deficiency. B, T, and plasma cells affected.

56
Q

Gout

A

Purine Metabolism disorder. excess uric acid form crystals –> inflammatory response in macrophages. Symptoms: inflammation, joint destruction, kidney disease, kidney stones

57
Q

Von Gierke disease

A

Purine Metabolism disorder. defect of glucose 6 phosphatase -> glucose can’t be formed from G6P so G6P instead goes down PPP to make uric acid

58
Q

Lesch-Nyhan Syndrome

A

Purine rescue disorder. HGPRT deficiency. Symptoms: destructive behavior toward self, hyperuricemia

59
Q

orotic aciduria

A

pyrimidine synthesis disorder. deficiency in OMP decarboxylase or OPT. Symptoms: slow growth in children, anemia

60
Q

phenylketonuria

A

PKU. amino acid metabolism disorder. elevated phenylalanine in tissue and reduced tyrosine. Symptoms: mousey odor, CNS abnormalities, hypopigmentation

61
Q

alkaptonuria

A

amino acid metabolism disorder. accumulation of homogentisic acid oxidase, which participates in degradation of tyrosine. Symptoms: black urine and black bone

62
Q

albinism

A

amino acid metabolism disorder . defect in tyrosine metabolism. Symptoms: albino phenotype

63
Q

homocystinuria

A

amino acid metabolism disorder. defect in homocysteine metabolism. Symptoms: myopia, displacement of the lens, skeletal abnormalities

64
Q

maple syrup urine disease

A

amino acid metabolism disorder. defect in BCKD which decarboxylates leucine, isoleucine, and valine. Symptoms: feeding problems, maple syrup odor in urine

65
Q

blue diaper syndrome

A

amino acid metabolism disorder defect in recovery of tryptophan in intestine. Symptoms: blue urine, hypercalcemia

66
Q

cystinuria

A

amino acid metabolism disorder. defect in uptake of cystine, ornithine, arginine, and lysine (COAL) in urine in kidneys. Symptoms: kidney stones

67
Q

retinoblastoma

A

mitosis disorder. mutation of retinoblastoma gene. Symptoms: cancer of the retina

68
Q

ataxia-telangiectasia

A

mitosis disorder. damage in DNA damage sensors. Symptoms: malformed blood vessels and nervous system dysfunction

69
Q

Down Syndrome

A

aneuploidy. trisomy 21. Symptoms: hypotonia, flat face, slanted palpebral fissures, single palmar crease

70
Q

Edwards Syndrome

A

aneuploidy. trisomy 18. Symptoms: flexed fingers, Rocker Bottom feet, early death

71
Q

Patau Syndrome

A

aneuploidy. trisomy 13. Symptoms: CNS malformation, cleft lip, early death

72
Q

Klinefelter Syndrome

A

aneuploidy. 47,XXY in males. Symptoms: sterility, soft and small testes, breast development

73
Q

Turner Syndrome

A

aneuploidy. monosomy X. Symptoms: short stature, broad chest, low hairline, ovarian dysgenesis, webbed neck

74
Q

Wolf-Hirschhorn Syndrome

A

chromosomal deletion. 4p deletion. Symptoms: growth deficiency, convulsions in infancy, sacral dimples

75
Q

Cri-du-chat Syndrome

A

chromosomal deletion. 5p deletion. Symptoms: catlike cry

76
Q

Angelman Syndrome

A

Imprinting disorder. deletion in UBE3A gene, paternally imprinted gene (paternal copy is methylated). Symptoms: Happy puppet syndrome, fascination w/ water

77
Q

Prader-Willi Syndrome

A

Imprinting disorder. mutation in SNRNPN– genes are maternally imprinted. Symptoms: hyperphagia (insatiable appetite)

78
Q

Beckwith-Wiedemann Syndrome

A

Imprinting disorder. mutation in imprinting control region on 11p15. Symptoms: large at birth, abdominal wall defects

79
Q

Russel-Silver Syndrome

A

Imprinting disorder. methylation error at 11p15 and UDP of chromosome 7. Symptoms: dwarfism, slow growth, opposite of BWS

80
Q

Rett Syndrome

A

(kinda) Imprinting disorder. mutation in MeCP2 which is a DNA methyl binding protein. Symptoms: neurodevelopmental delays, microcephaly

M1-Block 1 (32 decks)

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